Altitude is a phenotypic modifier in hereditary paraganglioma type 1: Evidence for an oxygen-sensing defect

Human Genetics

Volumn 113, Issue 3, 2003, Pages 228-237

  Astrom, Kristin ^b   Cohen, Joel E ^c   Willett Brozick, Joan E ^b   Aston, Christopher E ^d   Baysal, Bora E ^a,b  

^a UNIVERSITY OF PITTSBURGH   (United States)

^b UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^c ROCKEFELLER UNIVERSITY   (United States)

^d OKLAHOMA MEDICAL RESEARCH FOUNDATION   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

OXYGEN; SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE D; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ALTITUDE; ARTICLE; CHILD; DISEASE SEVERITY; FAMILY; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GERM LINE; HEREDITARY PARAGANGLIOMA TYPE 1; HUMAN; MAJOR CLINICAL STUDY; MALIGNANT NEOPLASTIC DISEASE; MISSENSE MUTATION; NETHERLANDS; NONSENSE MUTATION; PARAGANGLIOMA; PEDIGREE; PHENOTYPE; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; SYMPTOM; UNITED STATES;

ADRENAL GLAND NEOPLASMS; ALTITUDE; CAROTID BODY TUMOR; GENETICS, POPULATION; HUMANS; NETHERLANDS; OXYGEN; PARAGANGLIOMA, EXTRA-ADRENAL; PHENOTYPE; PHEOCHROMOCYTOMA; SUCCINATE DEHYDROGENASE; UNITED STATES; VARIATION (GENETICS);

EID: 0042566135     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-003-0969-6     Document Type: Article

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